{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T01:11:43Z","timestamp":1778807503694,"version":"3.51.4"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T00:00:00Z","timestamp":1558310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\u201cApple peel\u201d intestinal atresia is a rare form of small bowel atresia, in which the duodenum or proximal jejunum ends in a blind pouch and the distal small bowel wraps around its vascular supply, in a spiral resembling an apple peel. The etiology of \u201capple peel\u201d intestinal atresia is presently unknown, although a congenital or acquired intestinal vascular accident can have a role in the pathogenesis. We report a family in which the proband affected by \u201capple peel\u201d intestinal atresia, had a sibling (an interrupted pregnancy), and a paternal cousin with cardiac left\u2010sided obstructive lesions. Molecular testing for <jats:italic>NOTCH1<\/jats:italic> gene was carried out in the proband, because pathogenic mutations in this gene have been associated with familial and sporadic cardiac left\u2010sided obstructive lesions and vascular anomalies, both isolated or within the spectrum of the Adams\u2010Oliver syndrome (AOS). The heterozygous c.2734C&gt;T (p.Arg912Trp) <jats:italic>NOTCH1<\/jats:italic> variant was found in the proband with \u201capple peel\u201d intestinal atresia and in his father. This result argues for a possible causal relationship between <jats:italic>NOTCH1<\/jats:italic> gene mutations and some forms of intestinal defects, through a vascular mechanism. The spectrum of <jats:italic>NOTCH1<\/jats:italic>\u2010associated malformations is widened. Genetic counseling should take into account intrafamilial variable clinical expression and incomplete penetrance.<\/jats:p>","DOI":"10.1002\/ajmg.a.61195","type":"journal-article","created":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T04:37:35Z","timestamp":1558413455000},"page":"1570-1574","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Familial aggregation of \u201capple peel\u201d intestinal atresia and cardiac left\u2010sided obstructive lesions: A possible causal relationship with <i>NOTCH1<\/i> gene mutations"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0205-9634","authenticated-orcid":false,"given":"M. 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